Monozygotic twins with discordant karyotypes following
preimplantation genetic screening and single embryo transfer:
case report

J 2010

Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report

TAUWINKLOVÁ, Gabriela; Renata GAILLYOVÁ; Pavel TRÁVNÍK; Eva ORÁČOVÁ; Kateřina VESELÁ et. al.

Základní údaje

Originální název

Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report

Autoři

Vydání

J. Assist. Reprod. Genetics, USA, 2010, 1058-0468

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 1.253

Kód RIV

RIV/00216224:14310/10:00052164

Organizační jednotka

Přírodovědecká fakulta

UT WoS

000284550600009

Klíčová slova anglicky

Monozygotic twins; Preimplantation Genetic Screening (PGS); Apoptosis; Ring chromosome

Štítky

AKb, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 12. 10. 2015 12:46, prof. MUDr. Pavel Trávník, DrSc.

Anotace

V originále

To report a case of monozygotic monochorial diamniotic twins with discordant karyotypes. The pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred. Prenatal ultrasonography revealed monozygotic twins. One fetus had growth retardation, multiple organ abnormalities and polyhydramnion. The other twin had normal ultrasound appearance. Delivery on week 29 of gestation resulted in the birth of two females, a stillborn twin with karyotype 45,XX,-13[12]/46,XX,r(13)[3] and a healthy twin with normal karyotype. The discordance in the twins' karyotypes originated from a mosaic embryo. Structural chromosomal abnormality of the affected twin could not be revealed using standard PGS investigation. Embryo splitting occurred probably due to apoptotic process in an early stage of embryo development. Apoptosis represents one of the possible mechanisms which can explain the embryo twinning process globally.

Citovat

TAUWINKLOVÁ, Gabriela; Renata GAILLYOVÁ; Pavel TRÁVNÍK; Eva ORÁČOVÁ; Kateřina VESELÁ; Lenka HROMADOVÁ; Jan VESELÝ; Petra MUSILOVÁ; Jiří RUBEŠ; Jitka KADLECOVÁ; Iva SLÁMOVÁ; Eva MAKATUROVÁ a Vladimíra VRANOVÁ. Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report. J. Assist. Reprod. Genetics. USA, 2010, roč. 27, č. 11, s. 649-655. ISSN 1058-0468.

@article{935090,
   author = {Tauwinklová, Gabriela and Gaillyová, Renata and Trávník, Pavel and Oráčová, Eva and Veselá, Kateřina and Hromadová, Lenka and Veselý, Jan and Musilová, Petra and Rubeš, Jiří and Kadlecová, Jitka and Slámová, Iva and Makaturová, Eva and Vranová, Vladimíra},
   article_location = {USA},
   article_number = {11},
   keywords = {Monozygotic twins; Preimplantation Genetic Screening (PGS); Apoptosis; Ring chromosome},
   language = {eng},
   issn = {1058-0468},
   journal = {J. Assist. Reprod. Genetics},
   title = {Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report},
   volume = {27},
   year = {2010}
}

TY  - JOUR
ID  - 935090
AU  - Tauwinklová, Gabriela - Gaillyová, Renata - Trávník, Pavel - Oráčová, Eva - Veselá, Kateřina - Hromadová, Lenka - Veselý, Jan - Musilová, Petra - Rubeš, Jiří - Kadlecová, Jitka - Slámová, Iva - Makaturová, Eva - Vranová, Vladimíra
PY  - 2010
TI  - Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report
JF  - J. Assist. Reprod. Genetics
VL  - 27
IS  - 11
SP  - 649-655
EP  - 649-655
SN  - 10580468
KW  - Monozygotic twins
KW  - Preimplantation Genetic Screening (PGS)
KW  - Apoptosis
KW  - Ring chromosome
N2  - To report a case of monozygotic monochorial diamniotic twins with discordant karyotypes. The pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred. Prenatal ultrasonography revealed monozygotic twins. One fetus had growth retardation, multiple organ abnormalities and polyhydramnion. The other twin had normal ultrasound appearance. Delivery on week 29 of gestation resulted in the birth of two females, a stillborn twin with karyotype 45,XX,-13[12]/46,XX,r(13)[3] and a healthy twin with normal karyotype. The discordance in the twins' karyotypes originated from a mosaic embryo. Structural chromosomal abnormality of the affected twin could not be revealed using standard PGS investigation. Embryo splitting occurred probably due to apoptotic process in an early stage of embryo development. Apoptosis represents one of the possible mechanisms which can explain the embryo twinning process globally.
ER  -

TAUWINKLOVÁ, Gabriela; Renata GAILLYOVÁ; Pavel TRÁVNÍK; Eva ORÁČOVÁ; Kateřina VESELÁ; Lenka HROMADOVÁ; Jan VESELÝ; Petra MUSILOVÁ; Jiří RUBEŠ; Jitka KADLECOVÁ; Iva SLÁMOVÁ; Eva MAKATUROVÁ a Vladimíra VRANOVÁ. Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report. \textit{J. Assist. Reprod. Genetics}. USA, 2010, roč.~27, č.~11, s.~649-655. ISSN~1058-0468.

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